{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1984095865", "communityStandardTitle": [ "NM_000260.4(MYO7A):c.635G= (p.Arg212=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/28934610", "rs": 28934610 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 77156904, "referenceAllele": "G", "start": 77156903 } ], "hgvs": [ "NC_000011.10:g.77156904G=", "CM000673.2:g.77156904G=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 76867950, "referenceAllele": "G", "start": 76867949 } ], "hgvs": [ "NC_000011.9:g.76867950G=", "CM000673.1:g.76867950G=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 76545598, "referenceAllele": "G", "start": 76545597 } ], "hgvs": [ "NC_000011.8:g.76545598G=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "G", "end": 33641, "referenceAllele": "G", "start": 33640 } ], "hgvs": [ "NG_009086.1:g.33641G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001419" }, { "coordinates": [ { "allele": "G", "end": 33659, "referenceAllele": "G", "start": 33658 } ], "hgvs": [ "NG_009086.2:g.33659G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS706092" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 925, "referenceAllele": "G", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409709.9:c.635G=" ], "proteinEffect": { "hgvs": "ENSP00000386331.3:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS754325", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409709.9:c.635G=" }, "RefSeq": { "hgvs": "NM_000260.4:c.635G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386331.3:p.Arg212=" }, "RefSeq": { "hgvs": "NP_000251.3:p.Arg212=" } } } }, { "coordinates": [ { "allele": "G", "end": 949, "referenceAllele": "G", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409619.6:c.602G=" ], "proteinEffect": { "hgvs": "ENSP00000386635.2:p.Arg201=" }, "referenceSequence": "http://reg.genome.network/refseq/RS281706" }, { "coordinates": [ { "allele": "G", "end": 907, "referenceAllele": "G", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409709.7:c.635G=" ], "proteinEffect": { "hgvs": "ENSP00000386331.3:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS281784" }, { "coordinates": [ { "allele": "G", "end": 901, "referenceAllele": "G", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409893.5:c.635G=" ], "proteinEffect": { "hgvs": "ENSP00000386689.1:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS281942" }, { "coordinates": [ { "allele": "G", "end": 901, "referenceAllele": "G", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000458637.6:c.635G=" ], "proteinEffect": { "hgvs": "ENSP00000392185.2:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS304499" }, { "coordinates": [ { "allele": "G", "end": 901, "referenceAllele": "G", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000620575.4:c.635G=" ], "proteinEffect": { "hgvs": "ENSP00000477640.1:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS404890" }, { "@id": "http://reg.genome.network/allele/PA3077697953", "coordinates": [ { "allele": "G", "end": 907, "referenceAllele": "G", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_000260.3:c.635G=" ], "proteinEffect": { "hgvs": "NP_000251.3:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006322" }, { "coordinates": [ { "allele": "G", "end": 907, "referenceAllele": "G", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127179.2:c.635G=" ], "proteinEffect": { "hgvs": "NP_001120651.2:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS011523" }, { "coordinates": [ { "allele": "G", "end": 901, "referenceAllele": "G", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127180.1:c.635G=" ], "proteinEffect": { "hgvs": "NP_001120652.1:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS011524" }, { "coordinates": [ { "allele": "G", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_005274012.2:c.635G=" ], "proteinEffect": { "hgvs": "XP_005274069.1:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS067798" }, { "coordinates": [ { "allele": "G", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718558.2:c.635G=" ], "proteinEffect": { "hgvs": "XP_006718621.1:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072695" }, { "coordinates": [ { "allele": "G", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718559.2:c.635G=" ], "proteinEffect": { "hgvs": "XP_006718622.1:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072696" }, { "coordinates": [ { "allele": "G", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718560.2:c.635G=" ], "proteinEffect": { "hgvs": "XP_006718623.1:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072697" }, { "coordinates": [ { "allele": "G", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718561.2:c.635G=" ], "proteinEffect": { "hgvs": "XP_006718624.1:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072698" }, { "coordinates": [ { "allele": "G", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545044.1:c.635G=" ], "proteinEffect": { "hgvs": "XP_011543346.1:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS111951" }, { "coordinates": [ { "allele": "G", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545045.1:c.635G=" ], "proteinEffect": { "hgvs": "XP_011543347.1:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS111952" }, { "coordinates": [ { "allele": "G", "end": 637, "referenceAllele": "G", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545046.1:c.602G=" ], "proteinEffect": { "hgvs": "XP_011543348.1:p.Arg201=" }, "referenceSequence": "http://reg.genome.network/refseq/RS111953" }, { "coordinates": [ { "allele": "G", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545047.1:c.635G=" ], "proteinEffect": { "hgvs": "XP_011543349.1:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS111954" }, { "coordinates": [ { "allele": "G", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545048.1:c.635G=" ], "proteinEffect": { "hgvs": "XP_011543350.1:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS111955" }, { "coordinates": [ { "allele": "G", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545049.1:c.635G=" ], "proteinEffect": { "hgvs": "XP_011543351.1:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS111956" }, { "coordinates": [ { "allele": "G", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545050.1:c.377G=" ], "proteinEffect": { "hgvs": "XP_011543352.1:p.Arg126=" }, "referenceSequence": "http://reg.genome.network/refseq/RS111957" }, { "coordinates": [ { "allele": "G", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545051.1:c.635G=" ], "proteinEffect": { "hgvs": "XP_011543353.1:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS111958" }, { "coordinates": [ { "allele": "G", "end": 956, "referenceAllele": "G", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545052.1:c.635G=" ], "proteinEffect": { "hgvs": "XP_011543354.1:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS111959" }, { "coordinates": [ { "allele": "G", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949938.1:n.955G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS143251" }, { "coordinates": [ { "allele": "G", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949941.1:n.955G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS143252" }, { "coordinates": [ { "allele": "G", "end": 957, "referenceAllele": "G", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949942.1:n.957G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS143253" }, { "coordinates": [ { "allele": "G", "end": 957, "referenceAllele": "G", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949943.1:n.957G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS143254" }, { "coordinates": [ { "allele": "G", "end": 979, "referenceAllele": "G", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545044.2:c.635G=" ], "proteinEffect": { "hgvs": "XP_011543346.1:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS555897" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545046.2:c.725G=" ], "proteinEffect": { "hgvs": "XP_011543348.2:p.Arg242=" }, "referenceSequence": "http://reg.genome.network/refseq/RS555898" }, { "coordinates": [ { "allele": "G", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545050.2:c.377G=" ], "proteinEffect": { "hgvs": "XP_011543352.1:p.Arg126=" }, "referenceSequence": "http://reg.genome.network/refseq/RS555899" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017778.1:c.725G=" ], "proteinEffect": { "hgvs": "XP_016873267.1:p.Arg242=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569886" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017779.1:c.725G=" ], "proteinEffect": { "hgvs": "XP_016873268.1:p.Arg242=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569887" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017780.1:c.725G=" ], "proteinEffect": { "hgvs": "XP_016873269.1:p.Arg242=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569888" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017781.1:c.725G=" ], "proteinEffect": { "hgvs": "XP_016873270.1:p.Arg242=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569889" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017782.1:c.725G=" ], "proteinEffect": { "hgvs": "XP_016873271.1:p.Arg242=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569890" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017783.1:c.725G=" ], "proteinEffect": { "hgvs": "XP_016873272.1:p.Arg242=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569891" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017784.1:c.725G=" ], "proteinEffect": { "hgvs": "XP_016873273.1:p.Arg242=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569892" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017785.1:c.725G=" ], "proteinEffect": { "hgvs": "XP_016873274.1:p.Arg242=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569893" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017786.1:c.725G=" ], "proteinEffect": { "hgvs": "XP_016873275.1:p.Arg242=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569894" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017787.1:c.725G=" ], "proteinEffect": { "hgvs": "XP_016873276.1:p.Arg242=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569895" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017788.1:c.725G=" ], "proteinEffect": { "hgvs": "XP_016873277.1:p.Arg242=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569896" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747885.1:n.740G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS595975" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747886.1:n.740G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS595976" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747887.1:n.740G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS595977" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747888.1:n.740G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS595978" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747889.1:n.740G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS595979" }, { "@id": "http://reg.genome.network/allele/PA3077697953", "coordinates": [ { "allele": "G", "end": 925, "referenceAllele": "G", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_000260.4:c.635G=" ], "proteinEffect": { "hgvs": "NP_000251.3:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS662373", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409709.9:c.635G=" }, "RefSeq": { "hgvs": "NM_000260.4:c.635G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386331.3:p.Arg212=" }, "RefSeq": { "hgvs": "NP_000251.3:p.Arg212=" } } } }, { "coordinates": [ { "allele": "G", "end": 925, "referenceAllele": "G", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127180.2:c.635G=" ], "proteinEffect": { "hgvs": "NP_001120652.1:p.Arg212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676839" }, { "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "G", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001369365.1:c.602G=" ], "proteinEffect": { "hgvs": "NP_001356294.1:p.Arg201=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691590" } ], "type": "nucleotide" }